USE OF miR-18b FOR PREVENTION, TREATMENT, OR DIAGNOSIS OF MUSCLE DISEASE AND NEUROMUSCULAR DISEASE

Abstract

The present invention relates to use of miR-18b for prevention, treatment, or diagnosis of muscle diseases or neuromuscular diseases, and specifically it was confirmed that, in a muscle disease by gene mutations model, gene mutations reduce miR-18b expression, cause dysregulation of miR-18b signaling pathways, and thus induce calcium signaling, cell differentiation inhibition, and apoptosis. Therefore, miR-18b of the present invention may be used as a target factor for diagnosing and treating muscle diseases caused by gene mutations such as ALS and DMD.

Description

RELATED APPLICATIONS[0001]This application is a continuation in part of PCT application no. PCT / KR2018 / 009461, filed on Aug. 17, 2018, which claims priority to Korean Patent Application No. 10-2017-0105029, filed on Aug. 18, 2017 and Korean Patent Application No. 10-2018-0092805, filed on Aug. 9, 2018, in the Korean Intellectual Property Office, the disclosure of which is incorporated herein in its entirety by reference.SEQUENCE LISTING[0002]A Sequence Listing, incorporated herein by reference, is submitted in electronic form as an ASCII text file, of size 12 Kb, created Apr. 10, 2020, and named “8IT794402.TXT”.TECHNICAL FIELD[0003]The present invention relates to use of miR-18b for prevention, treatment, or diagnosis of muscle diseases or neuromuscular diseases, and specifically a method for preventing or treating muscle diseases, including administering a composition comprising a pharmaceutically effective amount of miR-18b to a subject, and a method of diagnosing muscle diseases,...

AI Technical Summary

Benefits of technology

The patent text explains that the present invention has discovered that a specific gene mutation causes a muscle disease by reducing the expression of a protein called miR-18b. This reduction leads to dysregulation of specific signaling pathways and ultimately causes cell differentiation inhibition and death. The invention also found that increasing miR-18b expression can reduce the effects of the gene mutation and restore normal cell differentiation and calcium signaling. This information suggests that miR-18b may be a target for diagnostic and therapeutic tools to treat muscle diseases caused by gene mutations.

Problems solved by technology

Unfortunately, there are few options for slowing down disease progression or improving the quality of life of the ALS patients.

In addition, spinal muscular atrophy outbreaks due to a mutation in the SMN1 gene encoding a survival motor neuron (SMN) protein in eukaryotes, and causes functional impairment to motor neurons that are present between the spinal cord and the brain stem due to a decrease in the SMN protein, so that the muscles do not receive a signal to command the movement of the muscles and are neglected, thereby causing hypotonia, myoatrophy, fasciculation, and the like.

However, the specific interaction mechanisms of gene mutations and miRNAs in muscle diseases caused by genetic causes are not fully understood.

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